Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.A250T
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NPHP1

NM_001128178.3:p.A250T

Associated Papers

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome.

Huang L et al.

Journal of Ophthalmology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."